Today, about 1,800 genetic tests are already on the market and every week between 5 and 10 new genetic tests are introduced. The continuing advent of such tests and the introduction of molecular diagnostics into the healthcare system are profoundly changing how medicine is practiced.
The most popular genomic tests being used today are addressing close to one million genetic markers including gene mutations and polymorphisms. While this is a large amount of data, it is still a small portion of our total genome information. Upcoming breakthrough technologies for genome sequencing are expected provide full genome sequencing at a very low cost (e.g. under $100) in the upcoming years, which should report even more data from 11 million potential markers (e.g., Single Nucleotide Polymorphisms, “SNP”).
In the meantime, healthcare professionals and patients are being confronted with gene annotations and disease pathway data (i.e. ‘omics’ data) that are complex and difficult to identify and understand. Only molecular biology trained professionals are able to read and make use of such complex data sets, which limits access by both patients and clinical professionals. There is a need for improved methods of organizing, visualizing and utilizing genomic data.
Currently, the consulting of ‘omics’ data is made through software designed for molecular biologists or through web interfaces on personal computers. These methods tend to limit the use and sharing of genomic data in everyday life. There is no simple tool for carrying genomic data and sharing this information, including sharing between patients and physicians. There is a need for methods of organizing, visualizing and utilizing genomic data on portable devices.